FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\SvipS82L.UAS
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General Information
Symbol
Dmel\SvipS82L.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0367210
Feature type
allele
Associated gene
Dmel\Svip
Associated Insertion(s)
Carried in Construct
P{UAS-Svip.S82L}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Johnson et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Johnson et al., 2021)
Mutagen
in vitro construct
(Johnson et al., 2021)
Progenitor genotype
Carried in construct
P{UAS-Svip.S82L}
Cytology
Description

UAS regulatory sequences drive expression of Svip (sequence from cDNA clone GH02734) that has been mutated to carry a S82L amino acid substitution in the VCP-interaction motif. This change is equivalent to a S77L change in the orthologous human SVIP gene, a variant identified in a patient with sporadic fronto-temporal dementia.

(Johnson et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Svip
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
3L:9,359,485..9,359,487 [+]
Nucleotide change:

AGC9359485TTA

Reported nucleotide change:

AGC>TTA

Amino acid change:

S82L | Svip-PA; S82L | Svip-PB

Reported amino acid change:

S82L

Comment:

Analogous S77L mutation in human SVIP implicated in inclusion body myopathy; mutation carried on in vitro construct.

(Johnson et al., 2021)
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Expression Data
      Reporter Expression
      Additional Information
      Statement
      Reference
       
      Marker for
      Reflects expression of
      Reporter construct used in assay
      Human Disease Associations
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 1 )
      Disease
      Evidence
      References
      model of  syndrome
      CEA
      (Johnson et al., 2021)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Johnson et al., 2021)
      SVIP:p.Ser77Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      SvipS82L.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)